✦ LIBER ✦

Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

✍ Scribed by Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 480 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:2<167::aid-humu14>3.0.co;2-0

No coin nor oath required. For personal study only.

✦ Synopsis

by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111 site w

📜 SIMILAR VOLUMES

Novel missense mutation of the connexin3

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant charcot-marie-tooth neuropathy

✍ Federica Schiavon; Cinzia Fracasso; Maria L. Mostacciuolo 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB 👁 2 views

A point mutation in codon 3 of connexin-

A point mutation in codon 3 of connexin-32 is associated with X-linked charcot-marie-tooth neuropathy

✍ Sanjoy Gupta; Timothy Benstead; Paul Neumann; Duane Guernsey 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB 👁 2 views

Correlation between connexin 32 gene mut

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy

✍ Ionasescu, Victor; Ionasescu, Rebecca; Searby, Charles 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 2 views

We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense

Four novel mutations of the connexin 32

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

✍ Ikegami, Tohru; Lin, Changqing; Kato, Mitsuhiro; Itoh, Aiko; Nonaka, Ikuya; Kuri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und

Two novel mutations (C53S, S26L) in the

Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families

✍ Takeo Yoshimura; Akio Ohnishi; Tatsunori Yamamoto; Yoshimitsu Fukushima; Mitsuhi 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB

Charcot-Marie-Tooth (CMT) disease consists of genetically heterogeneous neuropathies. Molecular genetic procedures have shown that most patients with CMT type 1 (autosomal dominant, hypertrophic form) have 1.5 Mb CMTlA duplication containing peripheral myelin protein-22 (PMP-22) gene

Mutation analysis of the connexin 32 (Cx

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations

✍ Eva Nelis; Sandra Simokovic; Vincent Timmerman; Ann Löfgren; Hubert Backhovens; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 2 views

The coding region of Cx32 was amplified by touchdown polymerase chain reaction (PCR) (Don et al., 1991). Three primer sets were used corresponding to nucleotides 54-77 (CX32-1) and 336-359 (CX32-2), i.e., part 1, 273-269 (Cx32-3) and 685-704 (Cx32-5), i.e., part 2, and 635-658 (Cx32-S1) and 919-938